Canonical Allele Identifier: CA9465269

Gene: RPS19

Linked Data

• ClinVar Variation Id: 329392
• ClinVar RCV Id: RCV000358661 ; RCV001094592 ; RCV001564337 ; RCV001820988
• dbSNP Id: rs143477104
• ExAC: 19:42364912 A / G
• gnomAD v2: 19-42364912-A-G
• gnomAD v3: 19-41860842-A-G
• gnomAD v4: 19-41860842-A-G
• MyVariant Identifiers: chr19:g.42364912A>G (hg19) ; chr19:g.41860842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41860842A>G , CM000681.2:g.41860842A>G	GRCh38
NC_000019.9:g.42364912A>G , CM000681.1:g.42364912A>G	GRCh37
NC_000019.8:g.47056752A>G	NCBI36
NG_007080.2:g.5925A>G
NG_007080.3:g.5925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.68A>G	ENSP00000469798.1:p.Lys23Arg
ENST00000598742.6:c.68A>G MANE Select	ENSP00000470972.1:p.Lys23Arg
ENST00000600467.6:c.68A>G	ENSP00000469228.2:p.Lys23Arg
ENST00000221975.6:c.-155A>G	ENSP00000221975.2:n.-155A>G
ENST00000593863.5:c.68A>G	ENSP00000470004.1:p.Lys23Arg
ENST00000598261.1:c.68A>G	ENSP00000469798.1:p.Lys23Arg
ENST00000598399.1:c.65A>G	ENSP00000472660.1:p.Lys22Arg
ENST00000598466.5:n.103A>G
ENST00000598742.5:c.68A>G	ENSP00000470972.1:p.Lys23Arg
ENST00000600467.5:c.68A>G	ENSP00000469228.1:p.Lys23Arg
ENST00000601492.5:c.68A>G	ENSP00000471621.1:p.Lys23Arg
NM_001022.3:c.68A>G	NP_001013.1:p.Lys23Arg
NM_001321483.1:c.68A>G	NP_001308412.1:p.Lys23Arg
NM_001321484.1:c.68A>G	NP_001308413.1:p.Lys23Arg
NM_001321485.1:c.68A>G	NP_001308414.1:p.Lys23Arg
XM_017027113.2:c.68A>G	XP_016882602.1:p.Lys23Arg
NM_001022.4:c.68A>G MANE Select	NP_001013.1:p.Lys23Arg
NM_001321483.2:c.68A>G	NP_001308412.1:p.Lys23Arg
NM_001321484.2:c.68A>G	NP_001308413.1:p.Lys23Arg
NM_001321485.2:c.68A>G	NP_001308414.1:p.Lys23Arg